STXBP1-Encephalopathy: a multifaceted cohort study into the clinical, electroencephalographical and cellular profile of STXBP1-E patients

STXBP1-Encephalopathy: a multifaceted cohort study into the clinical, electroencephalographical and cellular profile of STXBP1-E patients - STXBP1-E: A multilevel investigation

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON48953

Enrollment

Registered

2018-08-30

Start date

2018-10-13

Completion date

Unknown

Last updated

2025-09-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Early infantile encephalopathy

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: Identified mutation in the STXBP1-gene

Exclusion criteria

Exclusion criteria: Severe language barrier that is likely to hinder the procedure of informed consent.

Design outcomes

Primary

Measure	Time frame
1. To generate and maintain a database containing clinical profiles of patients carrying an STXBP1 mutation, assessed in a standardized manner. The aim is to assess whether there is a correlation between genotype (specific mutation in STXBP1-gene) and phenotype (specific symptoms, progresion, success of particular treatment strategies). 2. Identify any EEG biomarkers that may in the future aid diagnosis and/or prognosis for specific patients or across the cohort of STXBP1 encephalopathy patients. This will be investigated in an explorative manner, as well as by quantifying the excitation/inhibition balance in order to test the hypothesis that there is an imbalance in the brain of STXBP1-E patients. 3. To generate an in vitro cell model of human neurons with the exact genetic make-up of STXBP1-E patients, to study the functional effects of disease-associated STXBP1 mutations in order to gain a deeper understanding of the pathophysiological mechanisms at the synaptic level. Cellular and molecular laboratory technieken will be employed to measure the excitation/inhibition balance at the cellular level as well.	—

Measure

Time frame

1. To generate and maintain a database containing clinical profiles of patients carrying an STXBP1 mutation, assessed in a standardized manner. The aim is to assess whether there is a correlation between genotype (specific mutation in STXBP1-gene) and phenotype (specific symptoms, progresion, success of particular treatment strategies). 2. Identify any EEG biomarkers that may in the future aid diagnosis and/or prognosis for specific patients or across the cohort of STXBP1 encephalopathy patients. This will be investigated in an explorative manner, as well as by quantifying the excitation/inhibition balance in order to test the hypothesis that there is an imbalance in the brain of STXBP1-E patients. 3. To generate an in vitro cell model of human neurons with the exact genetic make-up of STXBP1-E patients, to study the functional effects of disease-associated STXBP1 mutations in order to gain a deeper understanding of the pathophysiological mechanisms at the synaptic level. Cellular and molecular laboratory technieken will be employed to measure the excitation/inhibition balance at the cellular level as well.

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Secondary

Measure	Time frame
Not applicable.	—

Countries

Netherlands

Outcome results